全基因组关联研究                        
                
                                
                        
                            疾病                        
                
                                
                        
                            遗传关联                        
                
                                
                        
                            精密医学                        
                
                                
                        
                            冠状动脉疾病                        
                
                                
                        
                            基因组                        
                
                                
                        
                            单核苷酸多态性                        
                
                                
                        
                            计算生物学                        
                
                                
                        
                            基因组学                        
                
                                
                        
                            生物                        
                
                                
                        
                            人类遗传学                        
                
                                
                        
                            生物信息学                        
                
                                
                        
                            遗传学                        
                
                                
                        
                            医学                        
                
                                
                        
                            基因                        
                
                                
                        
                            病理                        
                
                                
                        
                            内科学                        
                
                                
                        
                            基因型                        
                
                        
                    
            作者
            
                Jeanette Erdmann,Thorsten Kessler,Loreto Muñoz Venegas,Heribert Schunkert            
         
                    
        
    
            
        
                
            摘要
            
            In this review, we summarize current knowledge on the genetics of coronary artery disease, based on 10 years of genome-wide association studies. The discoveries began with individual studies using 200K single nucleotide polymorphism arrays and progressed to large-scale collaborative efforts, involving more than a 100 000 people and up to 40 Mio genetic variants. We discuss the challenges ahead, including those involved in identifying causal genes and deciphering the links between risk variants and disease pathology. We also describe novel insights into disease biology based on the findings of genome-wide association studies. Moreover, we discuss the potential for discovery of novel treatment targets through the integration of different layers of 'omics' data and the application of systems genetics approaches. Finally, we provide a brief outlook on the potential for precision medicine to be enhanced by genome-wide association study findings in the cardiovascular field.
         
            
 
                 
                
                    
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